MOGAT2 (monoacylglycerol O-acyltransferase 2)

Gene

• Entrez ID: 80168
• Gene name: Monoacylglycerol O-acyltransferase 2
• Gene symbol: MOGAT2
• Synonyms (NCBI Gene): DGAT2L5, DGAT2L5., MGAT2, hDC5
• Chromosome: 11
• Chromosome location: 11q13.5
• Summary: The protein encoded by this gene is an enzyme that catalyzes the synthesis of diacylglycerol from 2-monoacylglycerol and fatty acyl-CoA. The encoded protein is important in the uptake of dietary fat by the small intestine. This protein forms a complex wit

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003846	Function	2-acylglycerol O-acyltransferase activity	IBA
GO:0003846	Function	2-acylglycerol O-acyltransferase activity	IDA	27184406
GO:0003846	Function	2-acylglycerol O-acyltransferase activity	IEA
GO:0003846	Function	2-acylglycerol O-acyltransferase activity	TAS
GO:0004144	Function	Diacylglycerol O-acyltransferase activity	IBA
GO:0004144	Function	Diacylglycerol O-acyltransferase activity	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	14966132
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006071	Process	Glycerol metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006640	Process	Monoacylglycerol biosynthetic process	IDA	28420705
GO:0006651	Process	Diacylglycerol biosynthetic process	IBA
GO:0006651	Process	Diacylglycerol biosynthetic process	IEA
GO:0008374	Function	O-acyltransferase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016407	Function	Acetyltransferase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0019432	Process	Triglyceride biosynthetic process	IBA
GO:0019432	Process	Triglyceride biosynthetic process	IEA
GO:0019432	Process	Triglyceride biosynthetic process	IEA
GO:0019432	Process	Triglyceride biosynthetic process	TAS
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050892	Process	Intestinal absorption	IEA
GO:1990578	Component	Perinuclear endoplasmic reticulum membrane	IDA	27184406

Other IDs

• MIM: 610270
• HGNC: 23248
• e!Ensembl: ENSG00000166391

Protein

• UniProt ID: Q3SYC2
• Protein name: 2-acylglycerol O-acyltransferase 2 (EC 2.3.1.20) (EC 2.3.1.22) (Acyl-CoA:monoacylglycerol acyltransferase 2) (MGAT2) (hMGAT2) (Diacylglycerol O-acyltransferase candidate 5) (hDC5) (Diacylglycerol acyltransferase 2-like protein 5) (Monoacylglycerol O-acylt
• Protein function: Involved in glycerolipid synthesis and lipid metabolism (PubMed:12621063, PubMed:18768481, PubMed:27184406, PubMed:28420705). Catalyzes the formation of diacylglycerol, the precursor of triacylglycerol, by transferring the acyl chain of a fatty
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03982	DAGAT	39 → 334	Diacylglycerol acyltransferase	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in liver, small intestine, colon, stomach and kidney. {ECO:0000269|PubMed:12621063, ECO:0000269|PubMed:12824082}.
• Sequence:

  MVEFAPLFMPWERRLQTLAVLQFVFSFLALAEICTVGFIALLFTRFWLLTVLYAAWWYLD
  RDKPRQGGRHIQAIRCWTIWKYMKDYFPISLVKTAELDPSRNYIAGFHPHGVLAVGAFAN
  LCTESTGFSSIFPGIRPHLMMLTLWFRAPFFRDYIMSAGLVTSEKESAAHILNRKGGGNL
  LGIIVGGAQEALDARPGSFTLLLRNRKGFVRLALTHGAPLVPIFSFGENDLFDQIPNSSG
  SWLRYIQNRLQKIMGISLPLFHGRGVFQYSFGLIPYRRPITTVVGKPIEVQKTLHPSEEE
  VNQLHQRYIKELCNLFEAHKLKFNIPADQHLEFC

• Sequence length: 334

Pathways

KEGG:

Glycerolipid metabolism
Metabolic pathways
Fat digestion and absorption

Reactome:

Triglyceride biosynthesis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BONE FRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Agammaglobulinemia	Agammaglobulinemia	Pubtator	33044030	Associate	★☆☆☆☆ Found in Text Mining only
Antithrombin III Deficiency	Antithrombin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	34871464	Associate	★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 2A	Congenital disorder of glycosylation	UNIPROT_DG	11228641, 8808595		★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 2A	Congenital disorder of glycosylation	BEFREE	12417412, 8808595		★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 2A	Congenital disorder of glycosylation	GENOMICS_ENGLAND_DG	19419693, 27604308, 8808595		★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 2A	Congenital disorder of glycosylation	Pubtator	8808595	Associate	★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 2A	Congenital disorder of glycosylation	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 2A	Congenital disorder of glycosylation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	28742265, 31420886, 7607254, 8808595		★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	29869806, 33044030	Associate	★☆☆☆☆ Found in Text Mining only
Congenital dyserythropoietic anemia, type II	Congenital dyserythropoietic anemia	BEFREE	9009444		★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33044030	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31837122		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	24262292	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	28729637	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31837122		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	25598079, 31837122		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	33044030	Associate	★☆☆☆☆ Found in Text Mining only
Factor XII Deficiency	Factor XII Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	29986142		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III	Granulomatous Disease	BEFREE	28742265		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	BEFREE	31420886		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	33044030	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrodontia	Macrodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	21734185, 28328322, 29986142, 31837122		★☆☆☆☆ Found in Text Mining only
MGAT2-CDG	Congenital Disorder Of Glycosylation	Orphanet			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	CTD_human_DG	18539642		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25598079		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	29902282		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	29986142		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	21734185, 24262292, 24784138, 25598079, 31837122		★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	31837122		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only